ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286740
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127344
ClinVar RCV Id:
RCV000115148
RCV000199503
RCV000515328
RCV000587881
RCV001355668
RCV003149792
RCV003467020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile68Val
CA286738
NM_000051.4:c.202A>G